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Fatal familial insomnia (FFI) is an incurable disease of the brain. Only 28 families worldwide suffer from it. It is a dangerous hereditary disease. What are the symptoms of fatal family insomnia?

Fatal family insomniaishereditary disease , inherited autosomal dominant. If one parent is a carrier of the mutation, the risk of developing symptoms of this genetic disease in a child is as high as 50 percent. The appearance of the symptoms of the disease is determined by the mutant protein - prion - which has aspartic acid in its structure at the asparagine site. This mutation changes the shape of the protein molecule and transfers it to other he althy proteins in the brain.

The mutation occurs in the areas of the thalamus responsible for regulating sleep, making it difficult for nerve signals to travel from the brain to the body and back. It was first described in 1979 by the Italian physician Ignazio Roiter. He found that the cause of death of 2 women from one family was insomnia. When another member of this family fell ill, his brain was physiologically examined after his death and the cause of the disease was diagnosed.

Fatal family insomnia: symptoms

The disease appears in patients at different times. Usuallythe first symptoms appear between the ages of 30 and 60(on average in the age of 50). The manifestation of symptoms is an individual matter and may even differ between members of the same family.

Death occurs within 7-36 months of onset of symptoms.

In patients with terminal insomnia, the thalamus does not function properly, which results in complete insomnia. In addition, it comes to:

  • disturbances in blood pressure regulation,
  • heart failure,
  • body temperature disorders
  • and the flow of hormones.

When insomnia gets worse, they appear:

  • panic attacks,
  • phobias,
  • hallucinations.

Due to the inability to sleep, the patient becomes emaciated and loses a lot of weight. I have symptoms of dementia.

The effects of insomnia are deadly , the patient dies in a delirious state.

The immune system doesn't pick up the mutant protein and doesn't make you sickresistance.

Studies on the brains of people who have died from terminal insomnia have proven that there are far-reaching changes in the thalamus (like "holes"), with the rest of the brain remaining intact.

Thanks to this, patients, even in a very advanced stage of the disease, do not lose their communication skills and understanding the surrounding world.

Deadly insomnia is incurable

The methods of treating fatal insomnia tested so far are ineffective and do not bring any results, the patient dies.

The activities of medicine are limited only to improving the patient's quality of life. The patient cannot be given sleeping pills, as they usually induce a sudden coma.

Scientists pin their hopes on gene therapy, but research into this method is still ongoing.

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